A34A (p.Ala34Ala) variant of CYP21A2 (Steroid 21-hydroxylase)
A34A (p.Ala34Ala) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A34A (p.Ala34Ala) variant details
- p.Ala34Ala
- gnomAD 6-32038524-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 7.57
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available